Chapter 12
Self-Quiz
Unit 3: Genetics
Patterns of Inheritance
Review
Genes
are sequences of
on
chromosomes
and form the basic units of inheritance. Genes determine observable
, or characters, of an organism by
coding
for
.
Alleles are alternative versions of a gene caused by changes in the DNA called
. Each organism has two alleles for a given gene. One inherited from the maternal side, and the other from the paternal parent.
The exact combination of an organism's alleles for a given gene is referred to as its
. The organism's observable traits that result from the
genotype
is called its
If the two copies alleles for a gene are the same, the genotype is
, otherwise it is
.
An allele that determines phenotype when combined with another allele is said to be
An allele that does not express its phenotypic effect when combined with a dominant allele is said to be
.
Gregor
Mendel's
experiments with
peas
demonstrated the law of equal
: one member of an allele pair ends up in one gamete during
meiosis
, and the other in a different gamete. This allows us to
calculate
the
probabilities
of the genotypes and phenotypes of the F
1
generation from a genetic
cross
using the
Punnett
method.
In most cases, allele segregation occurs independently for different genes due to
random
distribution of chromosomes into gametes during meiosis; this is the law of independent
.
The Punnett Square cam be used to
calculate
the
of segregating multiple alleles in the F
1
generation. A genetic cross involving 2 independent
traits
is called a
cross.
Although in some cases the
is caused by a single gene, in most instances phenotype is determined by the
interaction
of multiple genes and the environment.
Chapter 13
Self-Quiz
Unit 3: Genetics
Chromosomes and Human Genetics
Review
The chromosomal theory of inheritance states that genes are located on
. The specific region on a
chromosome
where a gene is found is called the gene
. Chromosomes usually exist in
pairs.
This pairing means that in each cell there are two
for each gene.
Humans
have X and Y
sex
chromosomes; the other 44 chromosomes are called
. Females have two
chromosomes, and males have one
and one
. The Y chromosome contains a specific gene whose product is necessary for male development.
Genes that are located close together on a chromosome tend to be inherited as a group. Such
clusters
are known as
genes
, and do not exhibit independent
assortment.
During
meiosis,
genetic material can be
exchanged
between homologous pairs of chromosomes in a process
called
. This potential, together with mutations, the independent
assortment
of chromosomes during meiosis, and fertilization, results in
genetic
.
Recombination produces offspring that are
genetically
different from either parent. This genetic
in human populations provides the variation that fuels
.
In humans, most genetic diseases such as cystic
fibrosis
are
and
originate
as
of
single
genes.
Huntington's disease is caused by a a
allele; this disease is unusual in that its
symptoms
start late in life, after the normal reproductive age.
of genetic diseases can be shown on a
pedigree.
A person heterozygous for a recessive genetic disorder is a
for the disease.
When a gene is located on a
sex
chromosome, it is said to be
. Examples include
hemophilia
and muscular
dystrophy.
Congenital
Generalized
(CGH) is an X-linked
gene.
Inherited
disorders can also be caused by abnormalities in chromosome
, such as
21 in
Down's
Syndrome, or in chromosome
, such as deletion of a region in chromosome
5
in Cri du Chat
Syndrome.
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